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get_mitochondrial_variant_info

Retrieve mitochondrial variant information from gnomAD v4 database for genetic analysis and research purposes.

Instructions

[gnomAD API] Retrieve mitochondrial variant info (v4 only) Args: reference_genome (str): Reference genome (GRCh37 or GRCh38) variant_id (str): Mitochondrial variant ID (e.g. M-8602-T-C). Build must be GRCh38. Returns: dict: mito variant info Note: Not supported in v2/v3.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
reference_genomeYes
variant_idYes
datasetNognomad_r4

Implementation Reference

  • Handler function for 'get_mitochondrial_variant_info' tool, registered via FastMCP.
    @mcp.tool()
    def get_mitochondrial_variant_info(
        reference_genome: str,
        variant_id: str,
        dataset: str = 'gnomad_r4'
    ) -> dict:
        """
        [gnomAD API] Retrieve mitochondrial variant info (v4 only)
        Args:
            reference_genome (str): Reference genome (GRCh37 or GRCh38)
            variant_id (str): Mitochondrial variant ID (e.g. M-8602-T-C). Build must be GRCh38.
        Returns:
            dict: mito variant info
        Note:
            Not supported in v2/v3.
        """
    
        if dataset != 'gnomad_r4':
            raise ValueError("Only v4 is supported for mitochondrial variant info.")
        if reference_genome != 'GRCh38':
            raise ValueError("Only GRCh38 is supported for mitochondrial variant info.")
    
        variables = {
            'dataset': dataset,
            'reference_genome': reference_genome,
            'variant_id': variant_id,
        }
        return run_query_with_metadata('mitochondrial_variant', variables)

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